Literature DB >> 20965758

4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.

M M C Wamelink1, B Roos, E E W Jansen, M F Mulder, K M Gibson, C Jakobs.   

Abstract

Succinic semialdehyde dehydrogenase deficiency is a slowly progressive to static neurological disorder featuring elevated concentrations of 4-hydroxybutyric acid in body fluids. We present two patients with elevated 4-hydroxybutyric acid in urine which was later shown to be linked to catheter usage.
Copyright © 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID： 20965758      PMCID： PMC3654524          DOI： 10.1016/j.ymgme.2010.10.001

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  8 in total

1.  4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

Authors:  K M Gibson; C F Lee; K L Chambliss; V Kamali; B Francois; J Jaeken; C Jakobs
Journal:  Clin Chim Acta       Date:  1991-02-15       Impact factor: 3.786

2.  Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.

Authors:  E A Struys; E E W Jansen; K M Gibson; C Jakobs
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.

Authors:  K M Gibson; S Aramaki; L Sweetman; W L Nyhan; D C DeVivo; A K Hodson; C Jakobs
Journal:  Biomed Environ Mass Spectrom       Date:  1990-02

4.  Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.

Authors:  C Jakobs; M Bojasch; E Mönch; D Rating; H Siemes; F Hanefeld
Journal:  Clin Chim Acta       Date:  1981-04-09       Impact factor: 3.786

5.  Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

Authors:  N I Wolf; D Haas; G F Hoffmann; C Jakobs; G S Salomons; R A Wevers; U F Engelke; D Rating
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 6.  Gamma-hydroxybutyric acid: neurobiology and toxicology of a recreational drug.

Authors:  C Guin Ting Wong; Katherine F Y Chan; K Michael Gibson; O Carter Snead
Journal:  Toxicol Rev       Date:  2004

7.  Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase.

Authors:  Eduard A Struys; Nanda M Verhoeven; Erwin E W Jansen; Herman J Ten Brink; Maneesh Gupta; Terry G Burlingame; Lawrence S Quang; Timothy Maher; Piero Rinaldo; O Carter Snead; Amy K Goodwin; Elise M Weerts; P Rand Brown; Tonya C Murphy; Mathew J Picklo; Cornelius Jakobs; K Michael Gibson
Journal:  Metabolism       Date:  2006-03       Impact factor: 8.694

8.  Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.

Authors:  G K Brown; C H Cromby; N J Manning; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982
  8 in total
  1 in total

1.  Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.

Authors:  Mahsa Parviz; Kara Vogel; K Michael Gibson; Phillip L Pearl
Journal:  J Pediatr Epilepsy       Date:  2014-11-25
  1 in total

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